ORPHA:251576
Gliosarcoma
- Type
- Histopathological subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
This disease is described under Glioblastoma
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Gliosarcoma | |
| fr | Gliosarcome | |
| de | Gliosarkom | |
| es | Gliosarcoma | |
| it | Gliosarcoma | |
| nl | Gliosarcoom | |
| pt | Gliossarcoma | |
| pl | Glejakomięsak | |
| cs | Gliosarkom | |
| uk | Гліосаркома | |
| zh | 神经胶质肉瘤 | |
| tr | Gliosarkom |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C71.9 | NTBT | index | validated |
| ICD-11 | 2A00.00 | NTBT | index | validated |
| ICD-11 | XH9RC8 | E | specific | validated |
| MONDO | 0016681 | E | validated | |
| MeSH | D018316 | E | validated | |
| UMLS | C0206726 | E | validated | |
| GARD | 5653 | E | validated | |
| MedDRA | 10018340 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:360Glioblastoma
rare neurological diseases; rare neoplastic diseases
No children.
4
Genes
12 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IDH1 | Biomarker tested in | Assessed | HGNC:5382 | ENSG00000138413 | 147700 | 2q34 | isocitrate dehydrogenase (NADP(+)) 1 | 18772396[PMID] |
| MGMT | Biomarker tested in | Assessed | HGNC:7059 | ENSG00000170430 | 156569 | 10q26.3 | O-6-methylguanine-DNA methyltransferase | 22380407[PMID]_20556478[PMID] |
| NFKBIA | Biomarker tested in | Assessed | HGNC:7797 | ENSG00000100906 | 164008 | 14q13.2 | NFKB inhibitor alpha | 25215581[PMID] |
| PPARG | Biomarker tested in | Assessed | HGNC:9236 | ENSG00000132170 | 601487 | 3p25.2 | peroxisome proliferator activated receptor gamma | 10851250[PMID] |
| TP53 | Biomarker tested in | Assessed | HGNC:11998 | ENSG00000141510 | 191170 | 17p13.1 | tumor protein p53 | 17785346[PMID] |
| LZTR1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:6742 | ENSG00000099949 | 600574 | 22q11.21 | leucine zipper like post translational regulator 1 | 24071842[PMID]_23917401[PMID] |
| EGFR | Part of a fusion gene in | Assessed | HGNC:3236 | ENSG00000146648 | 131550 | 7p11.2 | epidermal growth factor receptor | 24075187[PMID]_24071942[PMID] |
| FGFR1 | Part of a fusion gene in | Assessed | HGNC:3688 | ENSG00000077782 | 136350 | 8p11.23 | fibroblast growth factor receptor 1 | 22837387[PMID] |
| FGFR3 | Part of a fusion gene in | Assessed | HGNC:3690 | ENSG00000068078 | 134934 | 4p16.3 | fibroblast growth factor receptor 3 | 22837387[PMID] |
| SEPTIN14 | Part of a fusion gene in | Assessed | HGNC:33280 | ENSG00000154997 | 612140 | 7p11.2 | septin 14 | 24075187[PMID]_24071942[PMID] |
| TACC1 | Part of a fusion gene in | Assessed | HGNC:11522 | ENSG00000147526 | 605301 | 8p11.22 | transforming acidic coiled-coil containing protein 1 | 22837387[PMID] |
| TACC3 | Part of a fusion gene in | Assessed | HGNC:11524 | ENSG00000013810 | 605303 | 4p16.3 | transforming acidic coiled-coil containing protein 3 | 22837387[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.03 / 100 000 | Europe | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/251576
- This record as JSON: /data/d/251576.json